Skip to main content
OpenTrials
Recruiting

NCT Number: NCT02864108

The Human Trisome Project

The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Down Syndrome Abnormalities, Multiple Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Trisomy 21

Age range

6 month–89 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Linda Crnic Institute for Down Syndrome at the University of Colorado Denver

Denver, Colorado, 80045, United States

Location status: Recruiting

Location contact

Joaquin Espinosa, PhD

PRINCIPAL_INVESTIGATOR

About this study

The purpose of this study is to provide qualified and approved researchers with access to biological samples and health information to answer specific research questions. This project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions such as Alzheimer's disease, congenital heart defects, autoimmune disorders, autism, and some forms of leukemia.

Participation includes a blood draw, a mouth swab, and allowing researchers to look at your health information yearly for the next 5 years. Optional procedures include providing a urine and/or stool sample and taking part in the study for a longer time frame.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Anyone 6 months to 89 years old who:

  • has Down syndrome (any type)
  • does not have Down syndrome

Exclusion criteria

  • Prisoners
  • Wards of the state

Treatment and study plan

Primary outcomes

  1. Number of Participants and Controls Enrolled in Biobank

    Time frame: 5 years

    Create biobank of blood cells and plasma, saliva, mouth swab, urine, stool, and induced pluripotent stem cells (iPSC) cells for use in approved research projects.

Secondary outcomes

  1. Number of Clinical Records Available for Approved Research Purposes

    Time frame: 5 years

    Create a database of clinical information to pair with biological samples listed above.

  2. Multidimensional Sample Characterization

    Time frame: 5 years

    Characterize biological samples with multidimensional cellular and molecular analyses to generate the most thoroughly characterized set of samples from individuals with Down syndrome in the world.

Study contacts

Contact information is provided by the study sponsor or research team.

Angela Rachubinski, PhD

CONTACT

[email protected]

(303) 724-7366

Constance Brecl, BA

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Collaborators

  • Anna and John J. Sie Foundation
  • GLOBAL Down Syndrome Foundation
  • Linda Crnic Institute for Down Syndrome
  • National Center for Advancing Translational Sciences (NCATS)

Registry information

Official study title

Research to Develop the Human Trisome Project Biobank

Acronym: HTP

Important dates

Study start
2016
Primary completion
2036
Study completion
2036
First posted
Aug 11, 2016
Registry last updated
Oct 24, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.